논문KCI 등재
카우덴 증후군
Cowden Syndrome: A Review
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초록
카우덴 증후군은 PTEN 생식세포 돌연변이와 연관되어 상염색체 우성으로 유전되는 희귀한 유전 질환으로, 유병률은 1/200,000로 추정된다. 카우덴 증후군의 진단 기준은 변경되어 왔으며 몇 가지 질병 기준이 포함되었다. 본 종설에서는 카우덴 증후군 관련 질환에 대해 설명하였고 이는 환자가 유전 상담을 받을 때 이러한 희귀 한 질병을 검토함에 있어 도움이 될 것이다.
Abstract
Cowden syndrome is a rare autosomal dominant genetic disease, with an estimated prevalence of 1/200,000 with majority of PTEN germline mutation. Diagnostic criteria of Cowden syndrome have been changed and several disease criteria were included. Herein, we described Cowden syndrome related disease, and it would be helpful to review this rare disease when the patients come for genetic counseling.
참고문헌 (48)
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건강검진 내시경에서 위용종증이 발견되어 진단된 코우덴병의 1예권오언, 심상군, 우재곤, 유길종, 이지은, 정경원, 정창욱, 조대현대한소화기내시경학회 · Clinical Endoscopy2010 · 제40권 제6호유방암과 갑상선암이 동반된 Cowden 증후군 1예김창욱, 김창환, 김형근, 이보인, 조영석, 지정선, 채현석, 최규용, 한석원, 홍은정대한소화기내시경학회 · Clinical Endoscopy2006 · 제32권 제4호A Case of Cowden Syndrome Presenting with Diverse Cutaneous Manifestations박지혜, 신동민, 오세진, 이동윤, 이종은대한피부과학회 · Annals of Dermatology2023 · 제35권 제2호포이츠-제거스 증후군에 대한 종합적 고찰: 유전학, 임상적 표현 및 관리 전략Kim Hyeji, Kim Jun-Kyu, Kong Sun-Young, Lee Eun-Gyeong, Lim Myong Cheol, Park Sung Chan, Ryu Kum Hei대한진단검사의학회 · Laboratory Medicine Online2025 · 제15권 제4호Lhermitte-Duclos병을 동반한 Cowden병 1예김성경, 김은정, 양진모, 이강문, 이진선, 장우임, 정성훈, 정우철, 정인식, 조현미, 최강현, 최현주대한소화기내시경학회 · Clinical Endoscopy2004 · 제29권 제1호Cowden 증후군 1례의 장기 추적 관찰김흥식, 박경식, 오훈규, 이희정, 최선윤, 황진복대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2004 · 제7권 제1호
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